Homocysteine

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Homocysteine
2D structure for Homocysteine
Chemical Name	2-amino-4-sulfanylbutanoic acid
Chemical Formula	C₄H₉NO₂S
CAS Number	454-29-5
Chemical Information	HMDB00742
Biochemical Taxonomy	Amino Acids
Functional Taxonomy	Essential Amino Acid
Nutritional Taxonomy	Not Available
Metabolic Pathways	Not Available
Biofluid Location	Blood Cerebrospinal Fluid (CSF)
Tissue Location	Artery Brain Fibroblasts Intestine Kidney Liver Muscle Nerves Neurons Pancreas Placenta Platelet Adipose Tissue
Normal Biofluid Concentrations	Cerebrospinal Fluid (CSF): 0.057 +/- 0.035 uM Cerebrospinal Fluid (CSF): 0.12 +/- 0.08 uM Cerebrospinal Fluid (CSF): 20.7 +/- 1.7 uM
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Alzheimer's Disease Alzheimer's disease Homozygous sickle cell disease Patients with dementia
Other (Monogenic Disorders)	Homocysteinemia OMIM: 603174 Major depressive disorder OMIM: 608516 Methylmalonic aciduria and homocystinuria, CBLC type OMIM: 277400 Neural tube defects, folate-sensitive OMIM: 601634 Schizophrenia OMIM: 181500
Abnormal Biofluid Concentrations	Blood (Homozygous sickle cell disease): 12.5 +/- 5.0 uM Cerebrospinal Fluid (CSF) (Alzheimer's Disease): 14.2 +/- 1.7 uM Cerebrospinal Fluid (CSF) (Alzheimer's disease): 0.12 +/- 0.062 uM Cerebrospinal Fluid (CSF) (Patients with dementia): 0.10 (0.06�0.32) uM
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

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Introduction

guidelines
Homocysteine is a sulfur-containing amino acid that arises during methionine metabolism. Although its concentration in plasma is only about 10 micromolar (uM), even moderate hyperhomocysteinemia is associated with increased incidence of cardiovascular disease and Alzheimer's disease. Elevations in plasma homocysteine are commonly found as a result of vitamin deficiencies, polymorphisms of enzymes of methionine metabolism, and renal disease. Pyridoxal, folate, riboflavin, and Vitamin B(12) are all required for methionine metabolism, and deficiency of each of these vitamins result in elevated plasma homocysteine. A polymorphism of methylenetetrahydrofolate reductase (C677T), which is quite common in most populations with a homozygosity rate of 10-15 %, is associated with moderate hyperhomocysteinemia, especially in the context of marginal folate intake. Plasma homocysteine is inversely related to plasma creatinine in patients with renal disease. This is due to an impairment in homocysteine removal in renal disease. The role of these factors, and of modifiable lifestyle factors, in affecting methionine metabolism and in determining plasma homocysteine levels is discussed. Homocysteine is an independent cardiovascular disease (CVD) risk factor modifiable by nutrition and possibly exercise. Homocysteine was first identified as an important biological compound in 1932 and linked with human disease in 1962 when elevated urinary homocysteine levels were found in children with mental retardation. This condition, called homocysteinuria, was later associated with premature occlusive CVD, even in children. These observations led to research investigating the relationship of elevated homocysteine levels and CVD in a wide variety of populations including middle age and elderly men and women with and without traditional risk factors for CVD. (PMID 17136938, 15630149)